Head, 2004: Overview of all reported PxMD-PDHA1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
n.a.
4
n.a.
No
Dystonia (any or unspecified)
-Dystonia (ictal)
n.a.
No
C
n.a.
6
n.a.
No
-Dystonia (ictal)
Delayed cognitive development
Global development delay
Dystonia (any or unspecified)
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n.a.